Article
Cardiac Troponin T (TNNT2) mutations are less prevalent in Indian hypertrophic cardiomyopathy patients.
DNA and cell biology - 1 Apr 2012
Rani Deepa Selvi, Nallari Pratibha, Dhandapany Perundurai S, Tamilarasi Sivatchalam, Shah Anish, Archana Vijaya, AshokKumar Manickaraj, Narasimhan Calambur, Singh Lalji, Thangaraj Kumarasamy
Abstract excerpt
We sought to determine the frequency of the genetic variations in the Troponin T (TNNT2) gene and its association in Indian cardiomyopathy patients. Sequencing of the entire TNNT2 gene in 162 hypertrophic cardiomyopathy (HCM) patients, along with 179 healthy controls, revealed a total of 15 variants. These included an A28V missense mutation, a novel single-nucleotide polymorphism (SNP) (g.7239;G→A) predicted to...
Topics
- Cardiomyopathy, Hypertrophic
- Case-Control Studies
- Echocardiography
- Genetic Predisposition to Disease
- Humans
- India
- Linkage Disequilibrium
- Mutation, Missense
- Odds Ratio
- Polymorphism, Single Nucleotide
- Prevalence
- Sequence Analysis, DNA